G58R (p.Gly58Arg) variant of PRNP (Major prion protein)
G58R (p.Gly58Arg) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- gnomAD 20-4699392-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.72
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available